ClinVar Miner

List of variants reported as benign for Miyoshi muscular dystrophy 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.3928-85G>T rs1529408 0.96005
NM_001130987.2(DYSF):c.5885-16T>C rs1863812 0.91575
NM_001130987.2(DYSF):c.4626+43A>G rs84182 0.87024
NM_001130987.2(DYSF):c.4528-56A>G rs84181 0.85683
NM_001130987.2(DYSF):c.1277-48A>G rs4852800 0.81805
NM_001130987.2(DYSF):c.1034-68T>C rs12713755 0.81086
NM_001130987.2(DYSF):c.1003-73A>G rs11675897 0.81016
NM_001130987.2(DYSF):c.5004-37C>T rs2303599 0.79706
NM_001130987.2(DYSF):c.5785-41C>T rs2559081 0.77107
NM_001130987.2(DYSF):c.1985-116T>C rs2303597 0.72705
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.71202
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_001130987.2(DYSF):c.1033+94G>T rs11687223 0.68496
NM_001130987.2(DYSF):c.1450-88A>G rs4852802 0.67986
NM_001130987.2(DYSF):c.1449+13C>T rs4852801 0.60553
NM_001130987.2(DYSF):c.3403-121G>C rs3811611 0.59433
NM_001130987.2(DYSF):c.2979+112A>C rs10183967 0.57695
NM_001130987.2(DYSF):c.1034-20G>A rs12713756 0.48623
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_001130987.2(DYSF):c.460+150A>G rs57229705 0.19499
NM_001130987.2(DYSF):c.6321+15C>T rs2559082 0.19470
NM_001130987.2(DYSF):c.3086-17G>A rs3764971 0.18932
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_001130987.2(DYSF):c.-30G>A rs61333801 0.17633
NM_001130987.2(DYSF):c.1276+11C>T rs35982795 0.15096
NM_001130987.2(DYSF):c.2864+84G>C rs62143855 0.14839
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128 0.14353
NM_001130987.2(DYSF):c.888+11T>C rs13428076 0.13574
NM_001130987.2(DYSF):c.1494-163G>T rs79617374 0.13069
NM_001130987.2(DYSF):c.1034-64C>T rs55695728 0.12659
NM_001130987.2(DYSF):c.4221+96C>T rs2016605 0.12613
NM_001130987.2(DYSF):c.760-17C>T rs61104194 0.11792
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09951
NM_001130987.2(DYSF):c.889-104G>A rs13417592 0.09831
NM_001130987.2(DYSF):c.148-91C>T rs35628632 0.09296
NM_001130987.2(DYSF):c.1149+54C>T rs56343439 0.09198
NM_001130987.2(DYSF):c.4221+119A>G rs1814333 0.08837
NM_001130987.2(DYSF):c.239+20G>A rs12470028 0.08061
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356 0.06463
NM_001130987.2(DYSF):c.3575-17C>T rs13421969 0.04340
NM_001130987.2(DYSF):c.1807-24C>G rs2303595 0.04339
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03282
NM_001130987.2(DYSF):c.889-68G>A rs28500662 0.03261
NM_001130987.2(DYSF):c.460+82C>T rs79084610 0.03125
NM_001130987.2(DYSF):c.4222-20G>A rs111935215 0.02442
NM_001130987.2(DYSF):c.2410-117A>G rs72827550 0.02151
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607 0.02075
NM_001130987.2(DYSF):c.3229-61G>C rs57041989
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779

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